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Review
. 2018 May 2:9:303.
doi: 10.3389/fneur.2018.00303. eCollection 2018.

Core Clinical Phenotypes in Myotonic Dystrophies

Stephan Wenninger  1 , Federica Montagnese  1 , Benedikt Schoser  1
Affiliations
Review

Core Clinical Phenotypes in Myotonic Dystrophies

Stephan Wenninger et al. Front Neurol. .

Abstract

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled "Beyond Borders: Myotonic Dystrophies-A European Perception."

Keywords: DM1; DM2; myotonia; myotonic dystrophies; phenotypes; repeat expansion diseases; sleep disorders.

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Figures

Figure 1
Figure 1
(A,B) Typical distal muscular atrophy in patients with DM1. (C) Atrophy of proximal muscles in a patient with DM2. (D) Figure illustrating the core phneotypes of DM1 (left) and DM2 (right). Regions of muscular involvement (weakness and atrophy) are highlighted in red.
Figure 2
Figure 2
The characteristic face of a patient with DM1: long face, temporomandibular wasting, balding forehead.
See this image and copyright information in PMC

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